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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: Bernhard B. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Molecular spectrum of TSH╬▓ subunit gene defects in central hypothyroidism in the UK and Ireland.
Nicholas AK, Jaleel S, Lyons G, Schoenmakers E, Dattani MT, Crowne E, Bernhard B, Kirk J, Roche EF, Chatterjee VK, Schoenmakers N. Nicholas AK, et al. Among authors: Bernhard B. Clin Endocrinol (Oxf). 2017 Mar;86(3):410-418. doi: 10.1111/cen.13149. Epub 2016 Aug 4. Clin Endocrinol (Oxf). 2017. PMID: 27362444 Free PMC article.
Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.
Wilson LC, Ajayi-Obe E, Bernhard B, Maas SM. Wilson LC, et al. Among authors: Bernhard B. Am J Med Genet A. 2006 Dec 1;140(23):2625-30. doi: 10.1002/ajmg.a.31374. Am J Med Genet A. 2006. PMID: 16906569
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA; Deciphering Developmental Disorders Study, Lord CJ, Vissers LE, de Vries BB. Jansen S, et al. Among authors: Bernhard B. Am J Hum Genet. 2017 Apr 6;100(4):650-658. doi: 10.1016/j.ajhg.2017.02.005. Epub 2017 Mar 23. Am J Hum Genet. 2017. PMID: 28343630 Free PMC article.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: Bernhard B. Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1. Genome Med. 2019. PMID: 30909959 Free PMC article.
A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma.
Maher M, Roncaroli F, Mendoza N, Meeran K, Canham N, Kosicka-Slawinska M, Bernhard B, Collier D, Drummond J, Skordilis K, Tufton N, Gontsarova A, Martin N, Korbonits M, Wernig F. Maher M, et al. Among authors: Bernhard B. Endocrinol Diabetes Metab Case Rep. 2018 Jul 21;2018:18-0078. doi: 10.1530/EDM-18-0078. eCollection 2018. Endocrinol Diabetes Metab Case Rep. 2018. PMID: 30087776 Free PMC article.
Three's a crowd: 10q triplication secondary to a paternal 10q duplication.
Gardham A, Sullivan C, Bernhard B. Gardham A, et al. Among authors: Bernhard B. Clin Dysmorphol. 2014 Oct;23(4):143-6. doi: 10.1097/MCD.0000000000000048. Clin Dysmorphol. 2014. PMID: 25036987 No abstract available.
Uptake of testing for BRCA1/2 mutations in South East Scotland.
Holloway SM, Bernhard B, Campbell H, Lam WW. Holloway SM, et al. Among authors: Bernhard B. Eur J Hum Genet. 2008 Aug;16(8):906-12. doi: 10.1038/ejhg.2008.17. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285832
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